nsv3881305
- Organism: Homo sapiens
- Study:nstd102 (Clinical Structural Variants)
- Variant Type:copy number variation
- Method Type:Multiple
- Submitted on:GRCh37, GRCh38
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: Yes
- Region Size:25,098
- Description:Single allele AND Gestational diabetes mellitus uncontrolled
- Publication(s):Kasak et al. 2015
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 147 SVs from 35 studies. See in: genome view
Overlapping variant regions from other studies: 147 SVs from 35 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|
| nsv3881305 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000002.12 | Chr2 | 222,698,855 | 222,723,952 |
| nsv3881305 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000002.11 | Chr2 | 223,563,574 | 223,588,671 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|---|
| nssv15122819 | deletion | Multiple | Multiple | Gestational diabetes mellitus uncontrolled | not provided | ClinVar | RCV000161249.1, VCV000156823.1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|
| nssv15122819 | Submitted genomic | NC_000002.12:g.222 698855_222723952de l | GRCh38 (hg38) | NC_000002.12 | Chr2 | 222,698,855 | 222,723,952 |
| nssv15122819 | Submitted genomic | NC_000002.11:g.223 563574_223588671de l | GRCh37 (hg19) | NC_000002.11 | Chr2 | 223,563,574 | 223,588,671 |
No validation data were submitted for this variant
Clinical Assertions
| Variant Call ID | HGVS | Type | Allele Origin | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID |
|---|---|---|---|---|---|---|---|
| nssv15122819 | GRCh37: NC_000002.11:g.223563574_223588671del, GRCh38: NC_000002.12:g.222698855_222723952del | deletion | unknown | Gestational diabetes mellitus uncontrolled | not provided | ClinVar | RCV000161249.1, VCV000156823.1 |